I55T (p.Ile55Thr) variant of ORC1 (Q13415)
I55T (p.Ile55Thr) in ORC1 (Q13415) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
I55T (p.Ile55Thr) variant details
- p.Ile55Thr
- gnomAD 13-40799216-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.51
- REVEL 0.46
- CADD 21.90
- PolyPhen-2 0.01
- SIFT 0.15
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available